Incidental Mutation 'IGL01308:Ano1'
ID73536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Nameanoctamin 1, calcium activated chloride channel
SynonymsTmem16a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01308
Quality Score
Status
Chromosome7
Chromosomal Location144588549-144751974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 144595498 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 875 (Q875H)
Ref Sequence ENSEMBL: ENSMUSP00000112616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758]
Predicted Effect probably damaging
Transcript: ENSMUST00000033393
AA Change: Q814H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Q814H

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Pfam:Anoctamin 320 898 1.3e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118556
AA Change: Q872H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Q872H

DomainStartEndE-ValueType
Pfam:Anoct_dimer 112 375 5.5e-83 PFAM
Pfam:Anoctamin 378 955 6.7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121758
AA Change: Q875H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Q875H

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131571
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,249 D1256G probably damaging Het
Acot7 A T 4: 152,260,896 M308L probably benign Het
Adarb2 A G 13: 8,203,293 R25G possibly damaging Het
Ano6 G A 15: 95,913,661 probably null Het
Ehbp1 G A 11: 22,138,022 P354L probably damaging Het
Eml5 T C 12: 98,802,313 H1454R probably damaging Het
Esyt1 T A 10: 128,519,791 N421Y possibly damaging Het
Gen1 T C 12: 11,256,870 T100A probably damaging Het
Gm11639 A T 11: 104,720,697 D455V probably benign Het
Gm15292 C T 8: 21,250,418 T80I probably damaging Het
Jak3 A T 8: 71,685,166 D780V probably damaging Het
Klrb1a A G 6: 128,618,045 probably benign Het
Lrp8 A G 4: 107,864,076 I826M probably benign Het
Mcmbp G A 7: 128,714,485 Q214* probably null Het
Mtmr7 A T 8: 40,597,345 Y136N probably damaging Het
Ndor1 A G 2: 25,250,139 Y88H probably benign Het
Nkx2-4 A G 2: 147,084,340 Y201H possibly damaging Het
Olfr411 A G 11: 74,346,660 L308P probably damaging Het
Olfr503 T A 7: 108,544,726 L65* probably null Het
Olfr774 A T 10: 129,238,607 T153S probably benign Het
Pigg T C 5: 108,336,477 L663P probably damaging Het
Pik3cd A G 4: 149,657,460 V343A probably damaging Het
Plekha4 A G 7: 45,538,235 S244G probably damaging Het
Prkce T A 17: 86,625,462 D623E probably damaging Het
Rasgrf2 A G 13: 92,022,917 probably benign Het
Rexo5 T C 7: 119,834,276 W419R probably damaging Het
Rnaseh2b A G 14: 62,365,257 probably null Het
Rras A G 7: 45,021,285 Y193C possibly damaging Het
Sall4 T C 2: 168,750,244 I997V probably damaging Het
Sec31b A G 19: 44,523,683 F591L probably benign Het
Skiv2l A G 17: 34,840,634 L232P probably benign Het
Slc13a3 A T 2: 165,406,780 I526N probably damaging Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Snrnp25 A G 11: 32,208,745 probably benign Het
Tex264 T C 9: 106,662,408 K201E possibly damaging Het
Tgfb1 G T 7: 25,688,017 R50L probably damaging Het
Tle4 A G 19: 14,468,261 V207A probably benign Het
Tmed1 A T 9: 21,510,042 C45* probably null Het
Tmem260 A G 14: 48,511,958 N638S probably damaging Het
Traf3ip3 T C 1: 193,184,891 E274G probably damaging Het
Trak1 T C 9: 121,443,736 probably null Het
Trim3 A T 7: 105,617,469 V502E probably damaging Het
Trmo C T 4: 46,377,053 probably benign Het
Xab2 C T 8: 3,616,332 R192Q probably benign Het
Other mutations in Ano1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Ano1 APN 7 144638513 missense probably damaging 1.00
IGL00754:Ano1 APN 7 144597231 missense probably damaging 0.98
IGL00780:Ano1 APN 7 144655630 missense probably damaging 0.99
IGL00918:Ano1 APN 7 144644752 splice site probably benign
IGL01112:Ano1 APN 7 144637145 missense possibly damaging 0.52
IGL01285:Ano1 APN 7 144644742 missense probably benign 0.00
IGL01285:Ano1 APN 7 144595538 missense probably damaging 0.98
IGL01407:Ano1 APN 7 144637111 missense probably benign 0.22
IGL01672:Ano1 APN 7 144655675 missense probably damaging 0.96
IGL01920:Ano1 APN 7 144611454 splice site probably benign
IGL01926:Ano1 APN 7 144610875 missense possibly damaging 0.94
IGL02164:Ano1 APN 7 144637181 missense possibly damaging 0.91
IGL02190:Ano1 APN 7 144618883 missense probably benign 0.41
IGL02214:Ano1 APN 7 144655708 missense possibly damaging 0.80
IGL02299:Ano1 APN 7 144590075 missense possibly damaging 0.80
IGL02567:Ano1 APN 7 144611625 missense probably damaging 1.00
IGL03131:Ano1 APN 7 144603585 missense possibly damaging 0.90
IGL03291:Ano1 APN 7 144621675 missense probably damaging 1.00
IGL03299:Ano1 APN 7 144654256 missense probably damaging 1.00
IGL03394:Ano1 APN 7 144595439 splice site probably null
PIT4434001:Ano1 UTSW 7 144610895 missense probably benign 0.28
R0502:Ano1 UTSW 7 144597215 missense probably damaging 1.00
R0595:Ano1 UTSW 7 144590153 missense possibly damaging 0.94
R0732:Ano1 UTSW 7 144619488 critical splice acceptor site probably null
R0970:Ano1 UTSW 7 144595571 missense probably benign 0.02
R0988:Ano1 UTSW 7 144633653 missense possibly damaging 0.94
R1074:Ano1 UTSW 7 144611680 missense probably damaging 0.98
R1301:Ano1 UTSW 7 144633689 missense possibly damaging 0.60
R1528:Ano1 UTSW 7 144595566 missense probably damaging 1.00
R2018:Ano1 UTSW 7 144654250 missense probably damaging 1.00
R2056:Ano1 UTSW 7 144648052 missense probably damaging 1.00
R2057:Ano1 UTSW 7 144648052 missense probably damaging 1.00
R2058:Ano1 UTSW 7 144648052 missense probably damaging 1.00
R2059:Ano1 UTSW 7 144611390 missense probably damaging 1.00
R2860:Ano1 UTSW 7 144590012 missense probably damaging 1.00
R2861:Ano1 UTSW 7 144590012 missense probably damaging 1.00
R3770:Ano1 UTSW 7 144595569 missense probably damaging 1.00
R3970:Ano1 UTSW 7 144607963 missense probably benign 0.00
R4179:Ano1 UTSW 7 144650505 missense probably damaging 1.00
R4489:Ano1 UTSW 7 144611742 missense probably benign 0.00
R4678:Ano1 UTSW 7 144669552 missense probably benign 0.01
R4915:Ano1 UTSW 7 144611375 missense possibly damaging 0.69
R5114:Ano1 UTSW 7 144657083 missense possibly damaging 0.71
R5362:Ano1 UTSW 7 144648600 unclassified probably benign
R5364:Ano1 UTSW 7 144637204 missense probably damaging 1.00
R5366:Ano1 UTSW 7 144654209 missense possibly damaging 0.85
R5387:Ano1 UTSW 7 144648619 missense probably benign
R5762:Ano1 UTSW 7 144648037 missense probably damaging 0.99
R5857:Ano1 UTSW 7 144637103 missense probably benign 0.02
R6091:Ano1 UTSW 7 144669434 missense probably benign 0.12
R6093:Ano1 UTSW 7 144611377 missense possibly damaging 0.72
R6177:Ano1 UTSW 7 144678741 missense possibly damaging 0.79
R6246:Ano1 UTSW 7 144633725 missense possibly damaging 0.82
R6274:Ano1 UTSW 7 144618863 missense probably benign 0.01
R6323:Ano1 UTSW 7 144611686 missense possibly damaging 0.95
R6574:Ano1 UTSW 7 144607916 critical splice donor site probably null
R6782:Ano1 UTSW 7 144621687 missense probably damaging 1.00
R6880:Ano1 UTSW 7 144644742 missense probably benign 0.00
R6909:Ano1 UTSW 7 144655731 missense probably damaging 0.96
R7066:Ano1 UTSW 7 144637086 missense probably benign 0.35
R7073:Ano1 UTSW 7 144638552 missense probably damaging 0.96
R7146:Ano1 UTSW 7 144655656 missense probably benign 0.00
R7420:Ano1 UTSW 7 144655641 missense probably benign 0.00
R7874:Ano1 UTSW 7 144621724 missense probably damaging 1.00
R8468:Ano1 UTSW 7 144655620 missense probably damaging 1.00
R8867:Ano1 UTSW 7 144669660 missense possibly damaging 0.66
R8923:Ano1 UTSW 7 144650551 missense possibly damaging 0.61
Posted On2013-10-07